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Aliases for SELENOI Gene

Aliases for SELENOI Gene

  • Selenoprotein I 2 3 4 5
  • Ethanolaminephosphotransferase 1 (CDP-Ethanolamine-Specific) 2 3
  • Ethanolaminephosphotransferase 1 2 3
  • HEPT1 3 4
  • SELI 3 4
  • EC 2.7.8.1 4
  • KIAA1724 4
  • SEPI 3
  • EPT1 3

External Ids for SELENOI Gene

Previous HGNC Symbols for SELENOI Gene

  • EPT1

Summaries for SELENOI Gene

Entrez Gene Summary for SELENOI Gene

  • The multi-pass transmembrane protein encoded by this gene belongs to the CDP-alcohol phosphatidyltransferase class-I family. It catalyzes the transfer of phosphoethanolamine from CDP-ethanolamine to diacylglycerol to produce phosphatidylethanolamine, which is involved in the formation and maintenance of vesicular membranes, regulation of lipid metabolism, and protein folding. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]

GeneCards Summary for SELENOI Gene

SELENOI (Selenoprotein I) is a Protein Coding gene. Among its related pathways are Metabolism and Acyl chain remodelling of PE. An important paralog of this gene is CEPT1.

UniProtKB/Swiss-Prot for SELENOI Gene

  • Catalyzes phosphatidylethanolamine biosynthesis from CDP-ethanolamine. It thereby plays a central role in the formation and maintenance of vesicular membranes. Involved in the formation of phosphatidylethanolamine via Kennedy pathway.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SELENOI Gene

Genomics for SELENOI Gene

Regulatory Elements for SELENOI Gene

Enhancers for SELENOI Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F026284 0.4 ENCODE 12.6 -24.6 -24639 1.4 ATF2 HADHB SELENOI HADHA ADGRF3 LOC105374334
GH02F026283 0.2 ENCODE 11.8 -25.5 -25460 0.2 SELENOI HADHA HADHB LOC105374334
GH02F026251 0.6 Ensembl ENCODE 10.7 -56.6 -56588 0.8 HADHA SELENOI ADGRF3 LOC105374334
GH02F026184 1 ENCODE 10.6 -123.1 -123082 1.9 TBP ATF1 CBX3 CREB3L1 DEAF1 ZBTB40 RAD21 ELK1 ZNF143 ZNF207 KIF3C SELENOI ADGRF3 HADHA HADHB GAREM2 GC02P026194
GH02F026338 0.2 ENCODE 10.2 +31.5 31491 2.3 ELF3 ARID4B SIN3A DNMT3B RAD21 ZNF48 YY1 SP5 KAT8 TGIF2 ADGRF3 SELENOI HADHB GC02M026310
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SELENOI on UCSC Golden Path with GeneCards custom track

Genomic Location for SELENOI Gene

Chromosome:
2
Start:
26,308,547 bp from pter
End:
26,395,891 bp from pter
Size:
87,345 bases
Orientation:
Plus strand

Genomic View for SELENOI Gene

Genes around SELENOI on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SELENOI Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SELENOI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SELENOI Gene

Proteins for SELENOI Gene

  • Protein details for SELENOI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0D9-EPT1_HUMAN
    Recommended name:
    Ethanolaminephosphotransferase 1
    Protein Accession:
    Q9C0D9
    Secondary Accessions:
    • Q63ZE3

    Protein attributes for SELENOI Gene

    Size:
    397 amino acids
    Molecular mass:
    45229 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB21815.1; Type=Erroneous termination; Positions=387; Note=Translated as Sec.; Evidence={ECO:0000305};

neXtProt entry for SELENOI Gene

Post-translational modifications for SELENOI Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SELENOI Gene

No data available for DME Specific Peptides for SELENOI Gene

Domains & Families for SELENOI Gene

Gene Families for SELENOI Gene

Protein Domains for SELENOI Gene

Suggested Antigen Peptide Sequences for SELENOI Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9C0D9

UniProtKB/Swiss-Prot:

EPT1_HUMAN :
  • Belongs to the CDP-alcohol phosphatidyltransferase class-I family.
Family:
  • Belongs to the CDP-alcohol phosphatidyltransferase class-I family.
genes like me logo Genes that share domains with SELENOI: view

Function for SELENOI Gene

Molecular function for SELENOI Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.8 uM for CDP-ethanolamine {ECO:0000269 PubMed:17132865}; Vmax=76.3 pmol/min/mg enzyme with CDP-ethanolamine as substrate {ECO:0000269 PubMed:17132865};
UniProtKB/Swiss-Prot CatalyticActivity:
CDP-ethanolamine + 1,2-diacyl-sn-glycerol = CMP + a phosphatidylethanolamine.
UniProtKB/Swiss-Prot Function:
Catalyzes phosphatidylethanolamine biosynthesis from CDP-ethanolamine. It thereby plays a central role in the formation and maintenance of vesicular membranes. Involved in the formation of phosphatidylethanolamine via Kennedy pathway.

Enzyme Numbers (IUBMB) for SELENOI Gene

Gene Ontology (GO) - Molecular Function for SELENOI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004307 ethanolaminephosphotransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016780 phosphotransferase activity, for other substituted phosphate groups IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SELENOI: view

Phenotypes for SELENOI Gene

genes like me logo Genes that share phenotypes with SELENOI: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SELENOI

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SELENOI Gene

Localization for SELENOI Gene

Subcellular locations from UniProtKB/Swiss-Prot for SELENOI Gene

Membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for SELENOI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SELENOI: view

No data available for Subcellular locations from COMPARTMENTS for SELENOI Gene

Pathways & Interactions for SELENOI Gene

genes like me logo Genes that share pathways with SELENOI: view

UniProtKB/Swiss-Prot Q9C0D9-EPT1_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 3/3.

Gene Ontology (GO) - Biological Process for SELENOI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006646 phosphatidylethanolamine biosynthetic process TAS --
GO:0008654 phospholipid biosynthetic process IEA --
GO:1903955 positive regulation of protein targeting to mitochondrion IMP 24270810
genes like me logo Genes that share ontologies with SELENOI: view

No data available for SIGNOR curated interactions for SELENOI Gene

Drugs & Compounds for SELENOI Gene

(4) Drugs for SELENOI Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 34
Selenocysteine Experimental Pharma 0
Selenium Pharma 175
Magnesium Nutra 0

(7) Additional Compounds for SELENOI Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CDP-Ethanolamine
  • CDP Ethanolamine
  • CDP-Ethanolamine
  • CDPethanolamine
  • Cytidine diphosphate ethanolamine
3036-18-8
CMP-2-aminoethylphosphonate
Cytidine monophosphate
  • 5'-CMP
  • 5-Cytidylate
  • 5-Cytidylic acid
  • CMP
  • Cytidine 5'-monophosphate
63-37-6
PE(P-16:0e/16:0)
  • 2-Hexadecanoyl-1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine
PEP-16:0/18:1(11Z))
  • 1-(1-Enyl-palmitoyl)-2-vaccenoyl-sn-glycero-3-phosphoethanolamine
  • GPEtn(16:0/18:1)
  • GPEtn(16:0/18:1n7)
  • GPEtn(16:0/18:1w7)
  • GPEtn(34:1)
genes like me logo Genes that share compounds with SELENOI: view

Transcripts for SELENOI Gene

Unigene Clusters for SELENOI Gene

Ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SELENOI Gene

No ASD Table

Relevant External Links for SELENOI Gene

GeneLoc Exon Structure for
SELENOI
ECgene alternative splicing isoforms for
SELENOI

Expression for SELENOI Gene

NURSA nuclear receptor signaling pathways regulating expression of SELENOI Gene:

SELENOI

SOURCE GeneReport for Unigene cluster for SELENOI Gene:

Hs.189073

mRNA Expression by UniProt/SwissProt for SELENOI Gene:

Q9C0D9-EPT1_HUMAN
Tissue specificity: Widely expressed. Abundant in brain, placenta, liver and pancreas, followed by heart, skeletal muscle, lung and kidney. In brain it is strongly expressed in cerebellum, followed by the occipital pole and the frontal lobe.

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SELENOI Gene

Orthologs for SELENOI Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SELENOI Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPT1 34 35
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia EPT1 34 35
  • 94.04 (n)
cow
(Bos Taurus)
Mammalia EPT1 34 35
  • 92.02 (n)
mouse
(Mus musculus)
Mammalia Ept1 34 16 35
  • 88.66 (n)
rat
(Rattus norvegicus)
Mammalia Seli 34
  • 86.03 (n)
oppossum
(Monodelphis domestica)
Mammalia EPT1 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPT1 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPT1 34 35
  • 75.32 (n)
lizard
(Anolis carolinensis)
Reptilia EPT1 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ept1 34
  • 70.06 (n)
Str.6538 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.9928 34
zebrafish
(Danio rerio)
Actinopterygii EPT1 35
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008881 34
  • 51.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG33116 34 35
  • 49.66 (n)
CG7149 35
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_F54D7.2 34
  • 48.03 (n)
F54D7.2 35
  • 40 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EPT1 35
  • 25 (a)
ManyToMany
CPT1 35
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToMany
-- 35
  • 34 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14326 34
Species where no ortholog for SELENOI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SELENOI Gene

ENSEMBL:
Gene Tree for SELENOI (if available)
TreeFam:
Gene Tree for SELENOI (if available)

Paralogs for SELENOI Gene

Paralogs for SELENOI Gene

genes like me logo Genes that share paralogs with SELENOI: view

Variants for SELENOI Gene

Sequence variations from dbSNP and Humsavar for SELENOI Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10171681 -- 26,371,915(+) ggagC(A/G/T)CATTC intron-variant
rs10204053 -- 26,352,044(+) ctgag(A/G)tggga intron-variant
rs10210540 -- 26,360,488(+) CCATT(C/G)CTTAA intron-variant
rs1043427 -- 26,395,521(+) TGCTG(C/T)GGGCT nc-transcript-variant, utr-variant-3-prime
rs10445899 -- 26,391,935(+) TGGGT(C/G)TTAGT nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SELENOI Gene

Variant ID Type Subtype PubMed ID
esv33316 CNV loss 17666407
esv3590118 CNV loss 21293372
esv3590119 CNV loss 21293372
nsv2650 CNV insertion 18451855
nsv508832 CNV insertion 20534489

Variation tolerance for SELENOI Gene

Residual Variation Intolerance Score: 40.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SELENOI Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SELENOI

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SELENOI Gene

Disorders for SELENOI Gene

Relevant External Links for SELENOI

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SELENOI
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SELENOI

No disorders were found for SELENOI Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SELENOI Gene

Publications for SELENOI Gene

  1. Identification and characterization of human ethanolaminephosphotransferase1. (PMID: 17132865) Horibata Y. … Hirabayashi Y. (J. Lipid Res. 2007) 2 3 4 22 64
  2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 64
  3. Characterization of mammalian selenoproteomes. (PMID: 12775843) Kryukov G.V. … Gladyshev V.N. (Science 2003) 3 4 64
  4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for SELENOI Gene

Sources for SELENOI Gene

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